1. A snapshot of some pLI score pitfalls. Issue 7 (29th April 2019) Authors: Ziegler, Alban; Colin, Estelle; Goudenège, David; Bonneau, Dominique Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 839 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020) Authors: Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, She... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. Issue 7 (14th March 2022) Authors: Fenster, Rebecca; Ziegler, Alban; Kentros, Catherine; Geltzeiler, Alexa; Green Snyder, LeeAnne; Brooks, Elizabeth; Chung, Wendy K. Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 1954 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders. Issue 5 (31st August 2021) Authors: Nøstvik, Miriam; Kateta, Sarah M.; Schönewolf‐Greulich, Bitten; Afenjar, Alexandra; Barth, Magalie; Boschann, Felix; Doummar, Diane; Haack, Tobias B.; Keren, Boris; Livshits, Ludmila A.; Mei, Davide; Park, Joohyun; Pisano, Tiziana; Prouteau, Clement; Umair, Muhammad; Waqas, Ahmed; Ziegler, Alban;... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability. Issue 4 (17th July 2019) Authors: Ziegler, Alban; Bader, Patricia; McWalter, Kirsty; Douglas, Ganka; Houdayer, Clara; Bris, Céline; Rouleau, Stephanie; Coutant, Régis; Colin, Estelle; Bonneau, Dominique Journal: Clinical genetics Issue: Volume 96:Issue 4(2019) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO. Issue 4 (27th December 2020) Authors: Ziegler, Alban; Denommé‐Pichon, Anne‐Sophie; Boucher, Sophie; Bouzamondo, Nathalie; Colin, Estelle; Dieu, Xavier; Jean Yves, Tanguy; Bouhours, Natacha; Rouleau, Stéphanie; Coutant, Régis; Rodien, Patrice; Prunier, Delphine; Bonneau, Dominique Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 604 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Issue 10 (20th August 2020) Authors: Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; W... Journal: Journal of medical genetics Issue: Volume 58:Issue 10(2021) Page Start: 712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Issue 7 (28th July 2021) Authors: Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M.; Ruzhnikov, Maura R. Z.; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenja... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy. (3rd May 2022) Authors: Claus, Laura; Stallworth, Jennifer; van Jaarsveld, Richard; Turner, Joshu; Hawks, Alexandra; May, Melanie; Flanagan-Steet, Heather; Louie, Raymond; Silver, Josh; Lerner-Ellise, Jordan; Morel, Chantal; Mighton, Chloe; Ziegler, Alban; Barakat, Stefan; Dahan, Karin; Demoulin, Nathalie; Jean Goffin, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?. Issue 8 (September 2017) Authors: Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine Journal: Otology & neurotology Issue: Volume 38:Issue 8(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗